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232221001: Pinnal calcification (disorder)


Status: current, 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
347938016 Pinnal calcification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620258010 Pinnal calcification (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451958014 Calcification of pinna en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
347938016 Pinnal calcification en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
347938016 Pinnal calcification en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620258010 Pinnal calcification (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
620258010 Pinnal calcification (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
620258010 Pinnal calcification (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3451958014 Calcification of pinna en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6421641000241118 calcification du pavillon auriculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6421651000241115 calcification du pavillon de l'oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6421641000241118 calcification du pavillon auriculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6421651000241115 calcification du pavillon de l'oreille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pinnal calcification (disorder) Is a Acquired deformity of pinna (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Idiopathic calcification of skin (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Associated morphology Acquired deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pinnal calcification (disorder) Finding site Pinna structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pinnal calcification (disorder) Associated morphology Pathologic calcification false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pinnal calcification (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pinnal calcification (disorder) Associated morphology Pathologic calcification false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pinnal calcification (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pinnal calcification (disorder) Finding site Pinna structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pinnal calcification (disorder) Associated morphology Acquired deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pinnal calcification (disorder) Associated morphology Pathologic calcification true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pinnal calcification (disorder) Finding site Pinna structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pinnal calcification (disorder) Is a Disorder of pinna false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a calcification extrasquelettique false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Lesion of pinna true Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Ear lesion false Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Degenerative disorder of ear true Inferred relationship Existential restriction modifier (core metadata concept)
Pinnal calcification (disorder) Is a Calcinosis true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Is a True Pinnal calcification (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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