삼성의료원 삼성LAB

129 record(s) found

21-수산기 효소결핍증  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form

46,XY complete gonadal dysgenesis  46,XY complete gonadal dysgenesis

Alagille 증후군  Alagille syndrome

Aortic aneurysm syndrome, Loeys-Dietz type  Aortic aneurysm syndrome, Loeys-Dietz type

Autosomal dominant optic atrophy, classic type  Autosomal dominant optic atrophy, classic type

CADASIL 증후군  CADASIL syndrome

Congenital factor XII deficiency  Congenital factor XII deficiency

Congenital vitamin K-dependent coagulation factors deficiency  Congenital vitamin K-dependent coagulation factors deficiency

Cytomegalic congenital adrenal hypoplasia  Cytomegalic congenital adrenal hypoplasia

Dentatorubral-pallidoluysian atrophy  Dentatorubral-pallidoluysian atrophy

Distal myopathy, Nonaka type  Distal myopathy, Nonaka type

Dopa-responsive dystonia  Dopa-responsive dystonia

Duchenne형 근육퇴행위축, Becker형 근육퇴행위축  Duchenne and Becker muscular dystrophy

Early onset torsion dystonia  Early onset torsion dystonia

Early-onset autosomal dominant Alzheimer disease  Early-onset autosomal dominant Alzheimer disease

Ehlers-Danlos syndrome, vascular type  Ehlers-Danlos syndrome, vascular type

Familial paroxysmal ataxia  Familial paroxysmal ataxia

Hereditary Parkinson disease  Hereditary Parkinson disease

Hereditary neuropathy with liability to pressure palsies  Hereditary neuropathy with liability to pressure palsies

Hereditary sensory and autonomic neuropathy, type 4  Hereditary sensory and autonomic neuropathy, type 4

Hereditary thrombophilia due to congenital antithrombin deficiency  Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital protein C deficiency  Hereditary thrombophilia due to congenital protein C deficiency

Hereditary thrombophilia due to congenital protein S deficiency  Hereditary thrombophilia due to congenital protein S deficiency

Hypokalemic periodic paralysis  Hypokalemic periodic paralysis

II형 점액다당질증  Mucopolysaccharidosis, type II

I형 점액다당질증  Mucopolysaccharidosis, type I

Juvenile gastrointestinal polyposis  Juvenile gastrointestinal polyposis

Kennedy disease  Kennedy disease

LEOPARD 증후군  LEOPARD syndrome

MELAS 증후군  MELAS syndrome

MERRF 증후군  MERRF syndrome

MODY 증후군  MODY syndrome

Medium chain acyl-CoA dehydrogenase deficiency  Medium chain acyl-CoA dehydrogenase deficiency

Miller-Dieker 증후군  Miller-Dieker syndrome

Miyoshi myopathy  Miyoshi myopathy

Multiple endocrine neoplasia type 2  Multiple endocrine neoplasia type 2

Myoclonic dystonia  Myoclonic dystonia

Non rare thrombophilia  Non rare thrombophilia

Nonsyndromic hearing loss, autosomal dominant (DFNA)  Nonsyndromic hearing loss, autosomal dominant (DFNA)

Nonsyndromic hearing loss, mitochondrial  Nonsyndromic hearing loss, mitochondrial

Ornithine carbamoyltransferase deficiency  Ornithine carbamoyltransferase deficiency

Partial androgen insensitivity 증후군  Partial androgen insensitivity syndrome

Peuz-Jegher 증후군  Peutz-Jeghers syndrome

Pfeiffer 증후군  Pfeiffer syndrome

Progressive familial intrahepatic cholestasis  Progressive familial intrahepatic cholestasis

Pseudoachondroplasia  Pseudoachondroplasia

Romano-Ward 증후군  Romano-Ward syndrome

Smith-Magenis 증후군  Smith-Magenis syndrome

X-linked Charcot-Marie-Tooth disease  X-linked Charcot-Marie-Tooth disease

X염색체관련 (연소기) 망막층간분리  X-linked retinoschisis

가드너 증후군  Gardner syndrome

가족성 과콜레스테롤혈증  Familial hypercholesterolemia

가족성 대장 폴립증  Familial adenomatous polyposis

각막 이영양증  Corneal dystrophy

갈락토오스혈증  Galactosemia

결절성 경화증  Tuberous sclerosis

고 면역 글로불린 E 증후군  Hyper IgE Syndrome

고세 병  Gaucher`s disease

근육위축가쪽경화증  Amyotrophic lateral sclerosis

기텔만 증후군  Gitelman syndrome

낭성 섬유증  Cystic fibrosis

노리 병  Norrie disease

누난 증후군  Noonan syndrome

눈인두근(육)디스트로피  Oculopharyngeal muscular dystrophy

눈피부 백색증  Oculocutaneous albinism

다발 선천 뼈돌출증  Multiple congenital exostoses

다발성 골단이형성증  Multiple epiphyseal dysplasia

다운 증후군  Down syndrome

디 죠지 증후군  Di George`s syndrome

레버씨 선천성 시신경병증  Leber hereditary optic neuropathy

레쉬-니한 증후군  Lesch-Nyhan syndrome

레트 증후군  Rett syndrome

리-프라우메니 증후군  Li-Fraumeni syndrome

리병  Leigh disease

마르팡 증후군  Marfan’s syndrome

만성 골수증식성 질환  Chronic myeloproliferative disease

만성 육아종 병  Chronic granulomatous disease, CGD

망막색소변성  Retinitis pigmentosa

멘케스병  Menkes disease

무홍채증  Aniridia

불완전 골형성증  Osteogenesis imperfecta

비스코트-올드리치 증후군  Wiskott-Aldrich syndrome

상염색체 우성 다낭성 신 증후군  Autosomal dominant polycystic kidney disease

샤르코-마리-투스 병  Charcot-Marie-Tooth disease

선천 근육긴장증  Steinert myotonic dystrophy

스미스-렘리-오피쯔 증후군  Smith-Lemli-Opitz syndrome

시트룰린혈증  Citrullinemia

알렉산더 병  Alexander disease

얼굴어깨위팔형 근육퇴행위축  Facioscapulohumeral dystrophy

엔젤만 증후군  Angelman syndrome

여린엑스 증후군  Fragile X syndrome

연골 발육부전  Hypochondroplasia

연골무형성증  Achondroplasia

윌리암스 증후군  Williams syndrome

윌슨병  Wilson disease

유아성 척수성 근육 위축, I 형  Spinal muscular atrophy, type I

유전성 강직성 대 마비  Hereditary spastic paraplegia

유전성 저 감마글로불린혈증  Hereditary hypogammaglobulinemia

유전성 출혈성 모세혈관 확장(오슬러-웨버-렌두씨 병)  Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)

전두측두엽 치매  Frontotemporal dementia

전형적 페닐케톤뇨증  Classical phenylketonuria

제 1형 당원 축적 병  Glycogen storage disease type 1

제 II형 당원 축적 병  Glycogen storage disease type 2

제1형 신경섬유종증  Neurofibromatosis type 1

제2형 신경섬유종증  Neurofibromatosis type 2

주기 호중구 감소증  Cyclic neutropenia

중증복합면역결핍증  Severe combined immunodeficiency

중증성 지중해 빈혈  Beta-thalassemia major

진성적혈구 증가증  Polycythemia vera

진행성 골화성 섬유성 골이형성증  Fibrodysplasia ossificans progressiva

척수소뇌성 실조증(제1형)  Spinocerebellar ataxia type 1

척수소뇌성 실조증(제2형)  Spinocerebellar ataxia type 2

척수소뇌성 실조증(제6형)  Spinocerebellar ataxia type 6

척수소뇌성 실조증(제7형)  Spinocerebellar ataxia type 7

척수소뇌성 실조증(제8형)  Spinocerebellar ataxia type 8

척수소뇌성실조증(제3형)  Spinocerebellar ataxia type 3

칼만증후군  Kallmann`s syndrome

코우텐 증후군  Cowden syndrome

크라베병  Krabbe disease

크루종 병  Crouzon`s disease

티로신혈증  Tyrosinemia

판코니 빈혈  Fanconi anemia

펜드레드 증후군  Pendred syndrome

폰 빌레브란트 병  Von Willebrand disease

폰힙펠-란도우병  Von Hippel-Lindau disease

프라더 윌리 증후군  Prader-Willi syndrome

프로피온산혈증  Propionic acidemia

헌팅톤병  Huntington disease

혈우병 B  Hemophilia B