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85995004: Autosomal recessive hereditary disorder (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
201251014 Recessive hereditary disorder (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
paraplégie spastique autosomique récessive type 70 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Huntington disease-like 3 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Rhizomelic syndrome Urbach type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ectrodactyly polydactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kostmann syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie pilo-dentaire est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth type 2B5 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive lymphoproliferative disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dystrophie musculaire congénitale par déficit en intégrine alpha-7 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
maladie du motoneurone inférieur autosomique récessive de l'enfance est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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