385297003: Congenital deformity (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity	Is a	Deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital deformity	Is a	Congenital abnormal shape	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital deformity of chest wall (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thoracoschisis	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital split ear lobe (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amniotic adhesion (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital flat back deformity (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital plagiocephaly with pelvic obliquity (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital positional plagiocephaly	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proboscis lateralis	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fine Lubinsky syndrome (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital keratoconus	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital keratoconus posticus circumscriptus	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pes cavus of bilateral feet (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital pes cavus of bilateral feet (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital pes cavus of bilateral feet (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Congenital pes cavus of left foot (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pes cavus of left foot (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital pes cavus of right foot (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pes cavus of right foot (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital mallet toe (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital deformity of toe (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lop ear deformity	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deformity of right clavicle (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital deformity of left clavicle (disorder)	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital abnormal curvature	Is a	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Associated morphology	False	Congenital deformity	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

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

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1459476014	Congenital deformity (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1479549012	Congenital deformity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1459476014	Congenital deformity (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1459476014	Congenital deformity (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1479549012	Congenital deformity	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1479549012	Congenital deformity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core