49755003: Morphologically abnormal structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\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:

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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Id	Description	Lang	Type	Status	Case?	Module
82870011	Morphologic abnormality	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82871010	Morphologic abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82872015	Morphologic alteration, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82873013	Morphologic change, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82874019	Abnormal tissue appearance, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82877014	Abnormal tissue appearance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
82878016	Abnormal appearance, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
198205018	Lesion	en	Synonym (core metadata concept)	Inactive	Only initial character 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)