37764001: Congenital abnormal fusion (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital abnormal fusion	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal fusion	Is a	Fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal fusion	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abnormal fusion	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalopolysyndactyly type II	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Humeroulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fusion of mandibular incisor teeth (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft hand with syndactyly (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lumbarised first sacral vertebra	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schilbach Rott syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Poland anomaly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Camptobrachydactyly (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Heterodymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrocephalosyndactyly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Low assimilation pelvis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Osseous syndactyly of toes first web space	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhinocephaly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mirror hands and feet co-occurrent with nasal defect	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Radioulnar synostosis and dislocation of radial head	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autositic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Capra DeMarco syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monocephalus tripus dibrachius	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniosynostosis Philadelphia type (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Anadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deradelphus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monocephalus tetrapus dibrachius	Associated morphology	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Duplication of eyebrow and syndactyly syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Anakatadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cephalothoracopagus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thoracodidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Goodman-Syndrom	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gastrothoracopagus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monocephalus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cephalodymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pygodidymus (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Katadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Omphaloangiopagus (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Syncephalus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Radioulnar synostosis with microcephaly and scoliosis syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acardius (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypotrichosis and intellectual disability syndrome Lopes type	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pygomelus (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acardiacus anceps (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral tarsal coalitions of feet	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral tarsal coalitions of feet	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acephaly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Simple syndactyly of toes of right foot	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Simple syndactyly of toes of left foot (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dobrow syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Heart defect, tongue hamartoma, polysyndactyly syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Repair of syndactyly with skin graft (procedure)	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Correction of syndactyly with skin flap and graft	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Correction of syndactyly of fingers using skin graft	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Simple syndactyly lesser toes (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Symbrachydactyly of toe (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Imperforate hymen	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Timothy syndrome type 2 (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Wildervanck syndrome (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sacralized fifth lumbar vertebra	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Radioulnar synostosis and dislocation of radial head	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Radioulnar synostosis with microcephaly and scoliosis syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Capra DeMarco syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Proximal radioulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal radioulnar synostosis (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Radioulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
62997012	Congenital abnormal fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63002015	Congenitally fused structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63003013	Congenital failure of segmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63004019	Congenital failure of cleavage	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769668015	Congenital abnormal fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
62997012	Congenital abnormal fusion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
62997012	Congenital abnormal fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63002015	Congenitally fused structure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63002015	Congenitally fused structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63003013	Congenital failure of segmentation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63003013	Congenital failure of segmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63004019	Congenital failure of cleavage	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63004019	Congenital failure of cleavage	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769668015	Congenital abnormal fusion (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
769668015	Congenital abnormal fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core