25283002: Congenital dysplasia (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital dysplasi	Is a	kongenital anomali	false	Inferred relationship	Some
kongenital dysplasi	Is a	Dysplasia	false	Inferred relationship	Some
kongenital dysplasi	Is a	medfödd missbildning	false	Inferred relationship	Some
kongenital dysplasi	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Orofacial-digital syndrome III	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Berlin syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Tricho-oculodermovertebral syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Kirman syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail defects	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Dento-oculocutaneous syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sandman-Andra syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with nail defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
trifalangeala tummar med missbildning av nagel	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypohidrosis with neurolabyrinthitis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Flynn-Aird syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Curry-Hall syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Trichodental syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
laryngoonykokutant syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Mohr syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Schinzel-Giedion syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Senter syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Marshall syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oculodentodigital syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Tricho-dento-osseous syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pachyonychia congenita syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Moynahans syndrom	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	5
Johanson-Blizzard syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hallermann-Streiff syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ectodermal dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Carpotarsal osteochondromatosis (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Odonto-onycho-dermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Pachyonychia congenita type II of Jackson-Lawler (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Temporo-auro-mandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Temporo-auro-mandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Temporo-aural dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Temporo-aural dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Maxillo-zygomatic dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Maxillo-zygomatic dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Naso-maxillary dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Naso-maxillary dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
intermaxillopalatinal dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
intermaxillopalatinal dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
premaxillomaxillär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
premaxillomaxillär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Internasal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Internasal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Frontal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Fronto-malar faciosynostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Fronto-malar faciosynostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Sphenoidal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Sphenoidal dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
zygo-auro-mandibulär dysostos	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	2
Ehlers-Danlos syndrome, type 8	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia	Associated morphology	False	kongenital dysplasi	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42394016	Congenital dysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8221000052116	kongenital dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)