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723444009: Noonan syndrome-like disorder with loose anagen hair (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3424645013 Noonan syndrome-like disorder with loose anagen hair (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424646014 Noonan syndrome-like disorder with loose anagen hair en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424647017 Tosti syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424648010 A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
909501000172118 NS/LAH - Noonan syndrome-like disorder with loose anagen hair fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
926551000172118 syndrome Noonan-like avec cheveux anagènes caducs fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Congenital anomaly of hair true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Multiple malformation syndrome, moderate short stature, facial true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Loose anagen hair syndrome true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Congenital anomaly of face (disorder) true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Skin structure false Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence Congenital false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Face structure false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology anomalie du développement false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence Congenital false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence Congenital true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence Congenital true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Finding site Face structure true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology Growth alteration true Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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