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722379001: Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331755010 Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331756011 Congenital cataract with hypertrichosis and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331757019 CAHMR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331758012 CAHMR (cataract, hypertrichosis, mental retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331759016 This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331760014 This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Congenital hypertrichosis true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a retard mental false Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Finding site Skin structure false Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Finding site Lens clear false Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Finding site Lens clear true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Growth alteration false Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Some 1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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