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
utvecklingsabnormitet	Is a	kongenital anomali	false	Inferred relationship	Some
utvecklingsabnormitet	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bilateral congenital deformity of lower limbs	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital deformity of right finger	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital deformity of right upper limb (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital deformity of left finger	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital deformity of right lower limb	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital anomaly of cardiac chamber (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
HIVEP2-related intellectual disability	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Alstrom syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Angioosteohypotrophic syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Microcephalic primordial dwarfism Montreal type	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Axial mesodermal dysplasia spectrum (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Incomplete ossification of ilium	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
ofullständig förbening av os ischii	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
ofullständig förbening av blygdbenet	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lack of ossification of pubis	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Incomplete ossification	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lack of ossification of ischium	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hartsfield syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Neuhauser anomaly	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Trichoodontoonychial dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichoodontoonychial dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Trichoodontoonychial dysplasia	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Radio-renal syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Congenital occlusion of anus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
oto-palato-digitalt syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
oto-palato-digitalt syndrom	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	5
Hereditary benign acanthosis nigricans	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Darier disease	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Acral Darier's disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Palmar pitting due to Darier disease	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
22q11.2 deletion syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Congenital instability of right hip joint	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Acrokeratosis verruciformis of Darier disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Congenital instability of left hip joint	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Flexural Darier's disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Linear/nevoid/zosteriform Darier's disease (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Hereditary benign acanthosis nigricans with insulin resistance	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Lipomeningocele	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Anterior crossbite with destruction of oral mucosa	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Primary tethered cord syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Primary tethered cord syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Jawad syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Jawad syndrome	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Repair of claw toe (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Correction of congenital deformity of hindfoot (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Primary correction of congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Release of pantalar joints for correction congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
McCauley operation	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Soft tissue release for correction of congenital deformity of hindfoot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Posterior release of joints of foot for correction of congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Posteromedial release of calcaneotalar equinovarus	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Lateral release for congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Correction of congenital vertical talus	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Correction of clubfoot (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Tendon transfer and arthrodesis to correct claw toe	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Turco operation	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Separation of tarsal coalition	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Triple arthrodesis for correction of congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Primary correction of clubfoot (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Medial release of joints of foot for correction of congenital deformity of foot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Dilwyn Evans procedure for correction of clubfoot	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Gelmans operation	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2
Intrauterine fetal defect correction	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	1
Reduction of congenital hip dislocation by traction	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Juvenile osteochondrosis of left tarsus	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Juvenile osteochondrosis of bilateral tarsals (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	4
Juvenile osteochondrosis of right tarsus (disorder)	Associated morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Radialization correction for radial club hand	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	3
Correction of congenital deformity of forearm (procedure)	Direct morphology	False	utvecklingsabnormitet	Inferred relationship	Some	2

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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
41911000052118	utvecklingsabnormitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)