21390004: gebrekkige ontwikkeling (afwijkende morfologie)

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
gebrekkige ontwikkeling (afwijkende morfologie)	Is a	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
gebrekkige ontwikkeling (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of right ear (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Bilateral medullary sponge kidney (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Tapered teeth (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Acrootoocular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acrootoocular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Acropectoral syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acropectororenal dysplasia	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acropectororenal dysplasia	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Acropectororenal dysplasia	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Acrorenal mandibular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Acrorenoocular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acrorenoocular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Acrorenoocular syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Acrocephalopolydactyly (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Acrocephalopolydactyly (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acrocraniofacial dysostosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Acromegaloid facial appearance syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Acromegaloid facial appearance syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acropectorovertebral dysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Acropectorovertebral dysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Acropectorovertebral dysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Acrorenal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Acrorenal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	8
Camptodactyly syndrome Guadalajara type 1 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Cardiac anomaly and heterotaxy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Cardiocranial syndrome Pfeiffer type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Cardiospondylocarpofacial syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Anencephaly without rachischisis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Acrocraniofacial dysostosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Camptodactyly syndrome Guadalajara type 1 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Congenital anomaly of left ear (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Aniridia and absent patella syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Athabaskan brainstem dysgenesis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Bohring Opitz syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Bohring Opitz syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Bosley Salih Alorainy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Braddock syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Camptodactyly syndrome Guadalajara type 2 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Cardiomyopathy and renal anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Anophthalmia plus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	8
Craniofacial ulnar renal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	11
syndroom van craniosynostose, dysmorfie en brachydactylie	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Craniosynostosis and intracranial calcification syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Craniosynostosis Boston type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Cystic leukoencephalopathy without megalencephaly (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Chondrodysplasia with disorder of sex development syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Cerebrooculonasal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Cerebrooculonasal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Frank-Ter Haar syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Brain calcification Rajab type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Craniosynostosis Boston type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Amaurosis hypertrichosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Congenital bilateral internal tibial torsion	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Craniofacial conodysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Choroidal atrophy and alopecia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Fibular dimelia diplopodia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Filippi syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Craniofacial dyssynostosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Chudley-Lowry-Hoar-syndroom	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1

Start Previous Page 65 of 74 Next End

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
752081000146117	gebrekkige ontwikkeling (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752091000146115	gebrekkige ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752101000146110	dysgenesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
918701000146113	malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1882831000146116	abnormale ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4399201000146112	misvorming	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)