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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
53431000052116 morfologiskt avvikande struktur sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

4983 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Gabriele-de Vries syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Stromme syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Witteveen Kolk syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Sugarman brachydactyly (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Tubulinopathy-associated dysgyria (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Moderate to severe allergic rhinitis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hyperkeratosis with dry and peeling skin (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1

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