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
fibrofolliculomes multiples familiaux	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Okamoto syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Microlissencephaly micromelia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Ramos Arroyo syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Stern Lubinsky Durrie syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Simpson-Golabi-Behmel syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Embryopathy caused by mycophenolate mofetil (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Simpson Golabi Behmel syndrome type 2	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Native American myopathy	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Noonan syndrome-like disorder with loose anagen hair (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Noonan syndrome-like disorder with loose anagen hair (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Pili torti onychodysplasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Pierre Robin sequence faciodigital anomaly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Midline cleft of lower lip	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Microlissencephaly micromelia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Polyvalvular heart disease syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Revesz syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Clastothrix	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Trichothiodystrophy (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Clastothrix	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Pierson syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Trichothiodystrophy (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Renier Gabreels Jasper syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Transient bullous dermolysis of newborn (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Congenital deformity of left upper limb (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Parkes Weber syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
46,XY partial gonadal dysgenesis (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Celosomus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Ethmocephalus	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Neuroectodermal endocrine syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Neuroectodermal endocrine syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Embryofetopathy caused by methimazole (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Ligase 4 syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Keratin 14 related epidermolysis bullosa simplex (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Kleefstra syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Congenital ichthyosis with hypotrichosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Autosomal dominant osteopetrosis type 2 (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Neuroectodermal melanolysosomal disease (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Palmoplantar keratoderma with clinodactyly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Hypertelorism Teebi type (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Pericardial and diaphragmatic defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Hypospadias, hypertelorism, coloboma, deafness syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Congenital trigger thumb of right hand (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Congenital trigger thumb of left hand (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1
Polysyndactyly and cardiac malformation syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	7
Cryptomicrotia brachydactyly syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Crisponi syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Craniomicromelic syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Neutropenia, monocytopenia, deafness syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	4
Crisponi syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Craniomicromelic syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Temple Baraitser syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	5
Auricular abnormality, cleft lip, ocular abnormality syndrome	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Keutel syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	6
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	3
Embryopathy caused by retinoid (disorder)	Associated morphology	False	anomalie du développement	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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