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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
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cranioectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Desbuquois syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Winchester syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth defects Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with tooth-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with nail defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Marshall syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Anomalous pulmonary venous drainage to coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Degeneration of lateral meniscus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Derangement of anterior horn of lateral meniscus due to injury of knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of anterior horn of medial meniscus due to injury of knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of lateral meniscus due to injury of knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of medial meniscus due to injury of knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of posterior horn of lateral meniscus due to injury of knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of posterior horn of medial meniscus due to injury of knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of meniscus due to injury of knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalous pulmonary venous drainage to right atrium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oculodentodigital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Oculodentodigital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Tricho-dento-osseous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Tricho-dento-osseous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 8
Papillon-Lefèvre syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
syndrome d'Ehlers-Danlos de type 7B Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Odonto-onycho-dermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Odonto-onycho-dermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Odontomicronychial ectodermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Odontomicronychial ectodermal dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectodermal syndrome with hair-tooth-sweating defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectodermal syndrome with hair-tooth-sweating defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal syndrome with hair-sweating defects (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fordyce spots of lips (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fordyce spots of buccal mucosa (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Chondroectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Chondroectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Chondroectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Williams syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Williams syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Williams syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hay-Wells syndrome of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Hay-Wells syndrome of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Cutis laxa, x-linked Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cutis laxa, x-linked Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fordyce's disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sinus pericranii Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Peutz-Jeghers polyps of small bowel Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Lithopedion Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Hidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Peutz-Jeghers syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Angioma serpiginosum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of blood vessel of orbit proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of posterior horn of medial meniscus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Disorder of fetal structure Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple venous malformation of skin and mucous membrane (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hand-foot-genital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
FOXG1 syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Mowat-Wilson syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ectopic gray matter in centrum ovale Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Isolation of left subclavian artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of right subclavian artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Labial ectopic tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Arteriovenous malformation of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Arteriovenous malformation of maxilla (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Angelman syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Grebe syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Familial articular hypermobility syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Familial articular hypermobility syndrome (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Marshall-Smith syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Coronary artery arising from main pulmonary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4

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