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1297033003: Abnormally fused structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5289332010 Abnormally fused structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296153011 Abnormally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296154017 Fusion that has occurred in a structure that is not normally fused. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5289332010 Abnormally fused structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296153011 Abnormally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296154017 Fusion that has occurred in a structure that is not normally fused. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormally fused structure (morphologic abnormality) Is a Fusion true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Syncephalus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Katadidymus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracodidymus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of fingers with fusion of bones Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monocephalus tripus dibrachius Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acardiacus anceps (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Talocalcaneal coalition Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
derodidymis Associated morphology False Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fusion of pulmonary valve segment Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Osseous syndactyly of fingers - first web Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Osseous syndactyly of fingers - first web Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Osseous syndactyly of fingers - second to fourth web Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly of toes, first web space Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Osseous syndactyly of toes first web space Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalosyndactyly type I Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Complex tarsal coalition Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial fusion of spine - balanced Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial fusion of spine - unbalanced Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial fusion of spine with hemivertebra - balanced Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial fusion of spine with hemivertebra - unbalanced Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniopagus frontalis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniopagus parasiticus (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Correction of complicated syndactyly Direct morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial fusion of spine (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cake kidney Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrosyndactyly of thumb (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrosyndactyly of the fingers Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly of toes second to fourth web Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fusion of labia (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Sacralized fifth lumbar vertebra Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Imperfect fusion of skull Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tarsal coalitions Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fusion of kidneys (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fused common atrioventricular valve papillary muscle Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Repair of syndactyly Direct morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of toes with fusion of bones (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachysyndactyly of thumb Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndactyly of thumb (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dystrophia brevicollis (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type II Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly type III (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndactyly (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormal fusion of rib cartilage Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Thoracopagus with separate hearts and pericardial sacs Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracopagus with separate hearts and common pericardial sac (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracopagus with conjoined atria Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracopagus with conjoined atria and ventricles Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Rachipagus (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Parapagus (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dithoracic parapagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dicephalic parapagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Timothy syndrome type 1 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Conjoined twins Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Low assimilation pelvis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Low assimilation pelvis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
High assimilation pelvis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
High assimilation pelvis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Simple syndactyly of toes Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lunate-triquetrum synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lunate-triquetrum synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Crossed polysyndactyly (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hallux varus, preaxial polysyndactyly syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated congenital syngnathia (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 6 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniodigital syndrome and intellectual disability syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Symbrachydactyly of digit of hand Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia syndactyly syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Lumbarised first sacral vertebra Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fusion of lobes of lung Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly lesser toes (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Synchilia (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniopagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniopagus occipitalis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndactyly type 4 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 5 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive non-infectious anterior vertebral fusion (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triphalangeal thumb and polysyndactyly syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acropectoral syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cenani Lenz syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Capra DeMarco syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Capra DeMarco syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis Philadelphia type (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Filippi syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3

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