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
Immotile cilia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital malformation syndrome due to known exogenous cause	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cryptodidymus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Acrocephalopolysyndactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Warburg syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Fetal or neonatal effect of maternal use of alcohol	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Autositic twin of asymmetrical conjoined twins (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Syncephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Escobar syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Marshall-Smith syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
réparation de l'épispadias masculin	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
Multiple malformation syndrome with early overgrowth (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Fetus with central nervous system malformation with antenatal problem	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital iodine deficiency syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Acrocephalopolysyndactyly type II (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Omocephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Orofacial-digital syndrome III	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Orofacial-digital syndrome III	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Derodidymis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Dithoracic parapagus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Myxedematous form of cretinism	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital iodine deficiency syndrome of mixed type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Dipodia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de Waardenburg (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Grob's syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Laterality sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Correction of congenital anorectal malformation	Direct morphology	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Werner (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Polysomatous monster	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Segmental lymphangiomatosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Asymmetric crying face association (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Common atrioventricular orifice in double inlet ventricle (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
MVRCS association	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
ostéosclérose néonatale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Frontonasal dysplasia sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Thoracoparacephalus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
FG syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
FG syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hecht syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome oculo-facio-cardio-dentaire	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome d'athyroïdie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Biemond's syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital sequestration	est un(e) (attribut)	False	Developmental abnormality	Inferred relationship	Some
Townes syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Townes syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Robin sequence (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Early urethral obstruction sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Multiple malformation syndrome with senile-like appearance	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Kenny syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cardio-facio-cutaneous syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Diprosopus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Maternal PKU fetal effect	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Raine dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Dicephalus dipus dibrachius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Mulibrey nanism syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Multiple malformation syndrome with limb defect as major feature	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Cranial duplication	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fetal Alcohol Spectrum Disorder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Monster with cranial anomalies (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oculodentodigital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pygomelus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hemicardia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Semi-lobar holoprosencephaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cutaneous lymphangiectasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital anomaly of pupil	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Spondyloperipheral dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Strudwick type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Genitopatellar syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
RAPADILINO syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de cassure chromosomique de Varsovie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oculodento-osseous dysplasia - severe type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Stickler syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Mohr syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Fragile X syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Larsen syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Johanson-Blizzard syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Jugular lymphatic obstruction sequence	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome oto-palato-digital type 2 (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Hallermann-Streiff syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Orofacial-digital syndrome IV	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome oto-palato-digital type 1 (trouble)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oral-facial-digital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Orofacial-digital syndrome III	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Schinzel-Giedion syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Chondroectodermal dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oculodentodigital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oculodentodigital syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Oculodento-osseous dysplasia - mild type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oculodento-osseous dysplasia - mild type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Miller syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Acrosyndactyly of upper limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Aganglionosis of Auerbach's plexus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4

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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
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
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