21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cylindrical spirals myopathy (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Verloove Vanhorick Brubakk syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Branchiootic syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Laing early-onset distal myopathy	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intellectual disability Birk-Barel type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital muscular dystrophy type 1B	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital myopathy with internal nuclei and atypical cores (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
King Denborough syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Otofaciocervical syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Oro-facial digital syndrome type 11 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Branchiootic syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Facial dysmorphism, cleft palate, loose skin syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Short stature, wormian bones, dextrocardia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Spina bifida and hypospadias syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Spina bifida and hypospadias syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Oro-facial digital syndrome type 14	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Intellectual disability, polydactyly, uncombable hair syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Velofacioskeletal syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Wooly hair with palmoplantar keratoderma syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Verloove Vanhorick Brubakk syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Verloove Vanhorick Brubakk syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Wiedemann Steiner syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Leukonychia totalis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
White forelock with malformations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
White forelock with malformations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
White forelock with malformations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
White forelock with malformations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Prelingual non-syndromic genetic deafness (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oculoauricular syndrome Schorderet type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 1 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 1 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oro-facial digital syndrome type 1 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
King Denborough syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Postlingual non-syndromic genetic deafness	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Trichodermodysplasia and dental alterations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Trichodermodysplasia and dental alterations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Cerebrofacioarticular syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Oro-facial digital syndrome type 12	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Neonatal Marfan syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Neonatal Marfan syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Keipert syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Oro-facial digital syndrome type 13	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Oro-facial digital syndrome type 13	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	6
Craniofaciofrontodigital syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Birth defect due to maternal hyperthermia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Odonto onycho dysplasia with alopecia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Macrocephaly and developmental delay syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Keipert syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Craniodigital syndrome and intellectual disability syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichodermodysplasia and dental alterations syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Odonto onycho dysplasia with alopecia syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Oro-facial digital syndrome type 11 (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital deformity of left lower limb (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)