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
Dwarfism, alopecia, pseudoanodontia, cutis laxa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth defects	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Odontotrichomelic syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Orofacial-digital syndrome III	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Orofacial-digital syndrome IV	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Berlin syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Tricho-oculodermovertebral syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Kirman syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail defects	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dento-oculocutaneous syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with tooth-sweating defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Sandman-Andra syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with nail defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Triphalangeal thumbs with onychodystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Ectodermal dysplasia with sweating defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hypohidrosis with neurolabyrinthitis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Multiple benign annular creases of extremities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Reticulate pigmented anomaly of flexures	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary clubbing	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Flynn-Aird syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atypical ichthyosis vulgaris with hypogonadism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratosis pilaris with ichthyosis and deafness	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
erythème kératolytique hivernal	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratolysis exfoliativa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Palmoplantar keratoderma transgrediens	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acroerythrokeratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Progressive palmoplantar keratoderma of Greither	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolytic palmoplantar keratoderma of Vorner	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital palmoplantar and perioral keratoderma of Olmsted	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Circumscribed palmoplantar keratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratoderma with pachyonychia congenita	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Palmoplantar keratoderma with leukoplakia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratoderma with mental retardation and spastic paraplegia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Inherited cutaneous hyperpigmentation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Normal variation in cutaneous pigmentation (finding)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dyschromatosis universalis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Naegeli-Franceschetti-Jadassohn syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Symmetrical dyschromatosis of extremities	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Zosteriform reticulate hyperpigmentation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome crânio-facio-cardio-squelettique	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Dermatopathia pigmentosa reticularis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acromelanosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Acantholytic dyskeratotic epidermal naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Nevus striatus symmetricus of thumbs	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Epidermal naevus syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Malformation or hamartoma of skin appendage (navigational concept)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Malformation or hamartoma of eccrine sweat gland apparatus (navigational concept)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Eccrine angiomatous hamartoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Eccrine naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Acrosyringeal nevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Porokeratotic eccrine ostial and dermal duct naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Malformation or hamartoma of apocrine sweat gland apparatus (navigational concept)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Apocrine naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Syringocystadenoma papilliferum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Malformation or hamartoma of pilosebaceous apparatus (navigational concept)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Straight hair naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Woolly hair naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hairy malformation of palms and soles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Hair follicle naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Moniliform hamartoma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Genitoperineal raphe cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lumpy scalp syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of upper limb	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of complicated syndactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of clinodactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of upper limb congenital ring constriction band	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of congenital deformity	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Excision of limbus for congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
ténotomie des adducteurs pour luxation congénitale de la hanche	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of tibial pseudoarthrosis by excision and bone lengthening	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of tibial pseudoarthrosis by free fibula graft	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
correction d'une anomalie morphologique congénitale du pied	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of hindfoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some
libération des tissus mous pour correction d'une anomalie morphologique congénitale de l'arrière-pied	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Posterolateral release for correction of congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of midfoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
libération des tissus mous pour correction d'une anomalie morphologique congénitale du tarse antérieur	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of congenital deformity of forefoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
libération des tissus mous du pied bot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital hallux valgus	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital hallux varus	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
X-linked muscular dystrophy with abnormal dystrophin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Intermediate X-linked muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Manifesting female carrier of X-linked muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
X-linked limb girdle muscular dystrophy with normal dystrophin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Ji muscular dystrophy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hereditary myopathy limited to females	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2

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Reference Sets

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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