FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3424646014 Noonan syndrome-like disorder with loose anagen hair en Synonym Active Case sensitive SNOMED CT core
3424647017 Tosti syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Finding site Hair structure true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair Pathological process Pathological developmental process true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Occurrence Congenital true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair Occurrence Congenital true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair Pathological process Pathological developmental process true Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair Finding site Face structure true Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Associated morphology Growth alteration true Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair Is a Developmental hereditary disorder true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Congenital anomaly of hair true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Multiple malformation syndrome, moderate short stature, facial true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Loose anagen hair syndrome true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Hereditary disorder of the integument true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a Congenital anomaly of face true Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Finding site Skin structure false Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Associated morphology Developmental abnormality false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair Occurrence Congenital false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair Finding site Face structure false Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair Associated morphology Developmental abnormality false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair Occurrence Congenital false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair Finding site Hair structure false Inferred relationship Some 4
Noonan syndrome-like disorder with loose anagen hair Finding site Hair structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start