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:

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

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

27811000052119 kongenital anomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital anomali	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
kongenital anomali	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Normal variation in cutaneous pigmentation	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Dyschromatosis universalis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Naegeli-Franceschetti-Jadassohn syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Symmetrical dyschromatosis of extremities	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Zosteriform reticulate hyperpigmentation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cantu's syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Dermatopathia pigmentosa reticularis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acromelanosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Acantholytic dyskeratotic epidermal naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nevus striatus symmetricus of thumbs	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Epidermal naevus syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Malformation or hamartoma of skin appendage	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Malformation or hamartoma of eccrine sweat gland apparatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Eccrine angiomatous hamartoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Eccrine naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Acrosyringeal nevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Porokeratotic eccrine ostial and dermal duct naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Malformation or hamartoma of apocrine sweat gland apparatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Apocrine naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Syringocystadenoma papilliferum	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Malformation or hamartoma of pilosebaceous apparatus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Straight hair naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Woolly hair naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hairy malformation of palms and soles	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Hair follicle naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Moniliform hamartoma	Associated morphology	False	kongenital anomali	Inferred relationship	Some
genitoperineal rafecysta	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
syndrom med knölar i hårbotten	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of upper limb	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of complicated syndactyly	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of clinodactyly	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of upper limb congenital ring constriction band	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Soft tissue procedure for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Excision of limbus for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Adductor tenotomy for congenital dislocation of hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Triple pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of tibial pseudoarthrosis by excision and bone lengthening	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of tibial pseudoarthrosis by free fibula graft	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of tibial pseudoarthrosis by DCIA flap	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of hindfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some
Soft tissue release for correction of congenital deformity of hindfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Posterolateral release for correction of congenital deformity of foot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital deformity of midfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Soft tissue release for correction of congenital deformity of midfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	2
Correction of congenital deformity of forefoot (procedure)	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Soft tissue release for clubfoot	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital hallux valgus	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
Correction of congenital hallux varus	Direct morphology	False	kongenital anomali	Inferred relationship	Some	1
X-linked muscular dystrophy with limb girdle distribution	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
X-linked muscular dystrophy with abnormal dystrophin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Intermediate X-linked muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Manifesting female carrier of X-linked muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
X-linked limb girdle muscular dystrophy with normal dystrophin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Jis muskeldystrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hereditary myopathy limited to females	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
svår autosomalt recessiv muskeldystrofi i barndomen, nordafrikansk typ	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
autosomalt recessiv muskeldystrofi med gen belägen på 15q	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Reunion-Indiana Amish type muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
medfödd muskeldystrofi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Western type of congenital muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Ullrich congenital muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Eichsfeld type congenital muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Hutterite type of muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
X-linked muscular dystrophy not predominantly limb girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
benign skapuloperoneal muskeldystrofi med kardiomyopati	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy not predominantly limb girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Scapulohumeral muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy not predominantly limb girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Benign scapuloperoneal muscular dystrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Benign congenital muscular dystrophy with finger flexion contractures	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
distal muskeldystrofi med debut i vuxen ålder	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Benign congenital hypotonia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal recessive centronuclear myopathy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myopathy with type I hypotrophy	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital myopathy with fibre type disproportion	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital myopathy with uniform fiber type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myopathy with cytoplasmic inclusions	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Myopathy with tubular aggregates	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
ärftlig myositis ossificans	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Arthrogryposis	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Multiple lentigines syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Malignant atrophic papulosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Longitudinal deficiency of tibia AND/OR fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital rectovaginal fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital rectovaginal fistula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Male pseudohermaphroditism	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd anomali i könsorgan	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Embryonic cyst of epoophoron	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Paraumbilical hernia with gangrene	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cutis laxa, autosomal dominant	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1

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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
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27811000052119	kongenital anomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)