4541003: Congenital failure of fusion (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Microcephalus cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Abruzzo Erickson syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Central complete cleft palate (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Median cleft lip and cleft of alveolar process of maxilla	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cleft hard and soft palate with cleft lip	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft of soft palate and bilateral cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleft of soft palate and cleft lip (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	11
Bamforth Lazarus syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
syndrome d'Okamoto	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Auriculoocular anomaly and cleft lip syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pai syndrome	Associated morphology	False	Congenital failure of fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
183285015	Congenital failure of fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190350019	Congenital fissure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190351015	Congenital cleft	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190352010	Congenital defective closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190353017	Dysraphism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190354011	Dysraphia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190355012	Dysrhaphia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190356013	Dysrhaphism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
782647010	Congenital failure of fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1788026010	Congenital incomplete closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1788027018	Congenital imperfect closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core