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128430005: X-linked hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206738018 X-linked hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

361 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary disease est un(e) (attribut) Sex-linked hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ogden syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Spondyloepimetaphyseal dysplasia Bieganski type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
CK syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Distal Xq28 microduplication syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked myopathy with postural muscle atrophy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Familial infantile gigantism (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked acrogigantism est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Lesch-Nyhan syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Bulbospinal neuronopathy est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked osteoporosis with fractures est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Xp22.13p22.2 duplication syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked calvarial hyperostosis est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Atypical Rett syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Otopalatodigital syndrome spectrum disorder est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome d'insensibilité partielle aux androgènes est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
hypoplasie dermique en aires est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ehlers-Danlos syndrome, type 5 est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Fragile X syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Lowe syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Aicardi's syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Blue cone monochromatism (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked progressive cerebellar ataxia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked asexual dwarfism (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked hypodontia (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked oligodontia (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked congenital generalized hypertrichosis est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked complex hereditary spastic paraplegia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked pure hereditary spastic paraplegia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked distal hereditary motor neuropathy est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked thrombocytopenia with normal platelets (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked recessive hereditary disease est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked dominant hereditary disease (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked sensorineural hearing loss (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked excess of thyroxine-binding globulin (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked reduction of thyroxine-binding globulin est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked absence of thyroxine-binding globulin est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked retinitis pigmentosa est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked variant form of thyroxine-binding globulin est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked panhypopituitarism (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked hypoparathyroidism (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Xq25 microduplication syndrome est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked optic atrophy est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Atrophia bulborum hereditaria est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Fabry's disease est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hereditary factor VIII deficiency disease (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Placental sulphatase deficiency est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Hereditary factor IX deficiency disease (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Glycogen storage disease, type VI est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hereditary nephrogenic diabetes insipidus est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency anemia est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinemia est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Congenital adrenal hypoplasia, X-linked est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type I est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
maladie de Danon est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Dent's disease (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Nance-Horan syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked periventricular heterotopia (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked creatine deficiency est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
syndrome oculo-facio-cardio-dentaire est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Renpenning syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Christianson syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
PPM-X syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Partington syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Snyder-Robinson syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Dilated cardiomyopathy 3B (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Arts syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some

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