25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mohr syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Odontotrichomelic syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Orofacial-digital syndrome III	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Orofacial-digital syndrome IV	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Oral-facial-digital syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	9
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weismann Netter syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mirror hands and feet co-occurrent with nasal defect	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gnathodiaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylo-ocular syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Renal dysplasia co-occurrent with megalocystis and sirenomelia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ulna metaphyseal dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple non-ossifying fibromatosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
syndrome ischio-vertébral	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia type 1 Toledo type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple epiphyseal dysplasia type 4 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple epiphyseal dysplasia type 4 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Multiple epiphyseal dysplasia type 1	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple epiphyseal dysplasia type 1	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Multiple epiphyseal dysplasia type 5 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple epiphyseal dysplasia type 5 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
syndrome ischio-vertébral	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactylous dwarfism Mseleni type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Micromelic spondyloepimetaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Zlotogora Ogur syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia of head of femur Meyer type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Smith McCort dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyssegmental dysplasia with glaucoma syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spondylocamptodactyly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant spondylocostal dysostosis (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mitral valve dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitral leaflet dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Truncal valve dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dysplasia of cardiac valve (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ehlers-Danlos syndrome kyphoscoliotic type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ehlers-Danlos syndrome kyphoscoliotic type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Defects of tubular bones and spine (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oro-facial digital syndrome type 9 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepiphyseal dysplasia Reardon type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
12q14 microdeletion syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Brittle cornea syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brittle cornea syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spondyloepiphyseal dysplasia Cantu type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Spondyloepimetaphyseal dysplasia Missouri type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia Kimberley type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Short stature Brussels type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sparse hair with short stature and skin anomaly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Progressive non-infectious anterior vertebral fusion (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondylometaphyseal dysplasia Schmidt type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal recessive chondrodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal Larsen-like syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lelis syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia Kantaputra type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleidorhizomelic syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	8
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	6
X-linked mandibulofacial dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core