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723444009: syndrome Noonan-like avec cheveux anagènes caducs (trouble)


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
759441000241110 syndrome Noonan-like avec cheveux anagènes caducs (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
926551000172118 syndrome Noonan-like avec cheveux anagènes caducs fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) localisation d'une constatation (attribut) 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) survenue (attribut) congénital true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) modification de la croissance true Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Congenital anomaly of hair true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Multiple malformation syndrome, moderate short stature, facial true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Loose anagen hair syndrome true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) Congenital anomaly of face (disorder) true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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