107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
[X]Congenital malformation of larynx, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Congenital malformations of palate, not elsewhere classified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of mouth	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
[X]Other congenital malformations of diaphragm	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Other mouth anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital absence of nose NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Erythrokeratoderma en cocardes (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
L'Episcopo operation for obstetric palsy (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Zachary operation for obstetric palsy (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of clubfoot (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of hindfoot (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital protrusion (morphologic abnormality)	est un(e) (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital tracheal collapse (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Choledochocele (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital pericardial defect (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes equinovarus (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes equinovarus (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex, Ogna type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital choledochal cyst (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fistula of urachus (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rudimentary nipple (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
L - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
L - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
L - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Facioscapulohumeral muscular dystrophy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Primary seborrhea (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
D - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
D - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
D - transposition of the great vessels (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Deep hemangioma of skin (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Junctional epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital vascular disorder (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary benign intraepithelial dyskeratosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Acrokeratosis verruciformis of Darier disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary diffuse palmoplantar keratoderma (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Junctional epidermolysis bullosa gravis of Herlitz (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cryptophthalmos (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cryptophthalmos (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ankyloblepharon filiforme adnatum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ankyloblepharon filiforme adnatum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital tarsal kink (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital tarsal kink (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Euryblepharon (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Euryblepharon (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital miosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital iris ectropion (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa acquisita, classical acral type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Developmental anomaly of vitelline duct (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
X-linked recessive ichthyosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Punctate palmoplantar keratoderma (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Inherited epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Developmental malformation of branchial arch (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Fordyce spots of buccal mucosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital lower lip pits (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hereditary mucoepithelial dysplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Patent vitelline duct (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Vitelline duct polyp (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Hypertrichosis with congenital macrogingivae (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Midline cervical cleft (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutaneous lesion resulting from spinal dysraphism (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutaneous lesion resulting from spina bifida (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Rudimentary digit (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Drug-induced epidermolysis bullosa acquisita (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Odonto-onycho-dermal dysplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Odontomicronychial ectodermal dysplasia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Lamellar ichthyosis (limited type) (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Flexural Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Linear/nevoid/zosteriform Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Acral Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Palmar pitting due to Darier disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Nail dystrophy due to Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nail dystrophy due to benign familial pemphigus (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratoderma with deafness (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant familial woolly hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Genetic abnormality of hair shaft (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hypertrichosis lanuginosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa inverse type (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core