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
Developmental abnormality	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Developmental abnormality	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndrome d'alopécie circonscrite-polydactylie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Caudal appendage deafness syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
arthrogrypose-hyperkératose létale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
déficience intellectuelle liée à l'X type Nascimento	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Weaver Williams syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hemifacial microsomia with radial defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive amelia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cleft lip retinopathy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cyprus facial neuromusculoskeletal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Longitudinal deficiency of foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	11
Congenital anomaly of central nervous system	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital J shaped sella turcica (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital wide symphysis pubis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital club finger (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Common atrioventricular junction (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ichthyosis, oral and digital anomalies syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ichthyosis, oral and digital anomalies syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ichthyosis, oral and digital anomalies syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome de dysplasie ectodermique-surdité neurosensorielle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital anomaly of digestive organ	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Micropapilla	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital cataract ichthyosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Charlie M syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Charlie M syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Charlie M syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Congenital anomaly of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Charlie M syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
syndrome de German	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital coronary artery fistula to left atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital coronary artery fistula to left ventricle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital coronary artery fistula to right atrium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital coronary artery fistula to right ventricle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Epilepsy telangiectasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Spinocerebellar ataxia dysmorphism syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital absence of bile duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of iris	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dermatoleukodystrophy	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome marfanoïde-déficience intellectuelle autosomique récessif	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome de German	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Hypospadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hypospadias	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Synechia vulvae	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Incomplete anencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital absence of part of arm (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Anomalous muscle bands of left ventricle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital cleft hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of lobe of liver	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Uterus unicornis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Doubling of uterus with doubling of cervix and vagina	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dysplastic ovary	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital ovarian dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Embedded tooth	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital absence of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Uterus cordiformis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital stricture of bile duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de Coffin-Lowry	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Distal myopathy with posterior leg and anterior hand involvement (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Distal myopathy with early respiratory muscle involvement (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Female Kallman's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital pyloric membrane	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Van den Bosch syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital dislocation of knee with genu recurvatum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Microcephalus, digital anomaly, intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital duplication of uterus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Encephalocele of orbit	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Premature tooth eruption	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
epidermolyse bulleuse dystrophique dominante acrale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital cerebellar hypoplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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Reference Sets

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Concept inactivation indicator reference set

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US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core