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
anomalie du développement	Is a	anomalie congénitale	false	Inferred relationship	Some
anomalie du développement	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Embryopathy caused by retinoid (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
syndrome de gigantisme cérébral-kystes maxillaires	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Congenital muscular dystrophy Paradas type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Bathing suit ichthyosis (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Intellectual disability Buenos Aires type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Congenital anomaly of descending thoracic aorta (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital anomaly of abdominal aorta (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Congenital venous malformation of skin (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Cystic hygroma in fetus (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Keratinopathic ichthyosis (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Hereditary skin peeling syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Distal myopathy Welander type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Suprabasal epidermolysis bullosa simplex (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Scalp defect postaxial polydactyly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Caudal appendage deafness syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	8
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	9
X-linked intellectual disability Nascimento type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hemifacial microsomia with radial defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Autosomal recessive amelia (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Cleft lip retinopathy syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Cyprus facial neuromusculoskeletal syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	11
Congenital J shaped sella turcica (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital wide symphysis pubis (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital club finger (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Common atrioventricular junction (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Ectodermal dysplasia and sensorineural deafness syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Congenital cataract ichthyosis syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Charlie M syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Charlie M syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Charlie M syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Charlie M syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
German syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Dermatoleukodystrophy	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Marfanoid habitus with autosomal recessive intellectual disability syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
German syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Distal myopathy with posterior leg and anterior hand involvement (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Distal myopathy with early respiratory muscle involvement	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Van den Bosch syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Microcephalus, digital anomaly, intellectual disability syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Acral dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Ectodermal dysplasia trichoodontoonychial type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Intermediate anorectal malformation (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Ectodermal dysplasia trichoodontoonychial type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
SCARF syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
SCARF syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5

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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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module