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
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Campomelia Cumming type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ossification anomaly with psychomotor developmental delay syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Frank-Ter Haar syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thoracolaryngopelvic dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microcephalic osteodysplastic primordial dwarfism types I and III	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hay-Wells syndrome of ectodermal dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Heart-hand syndrome type 2 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sparse hair with short stature and skin anomaly syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
DOORS syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Heart-hand syndrome Slovenian type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked mandibulofacial dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scholte syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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)	2
Brachydactyly and arterial hypertension syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	5
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)	2
Zlotogora Ogur syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia type 1 Toledo type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Larsen syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acropectorovertebral dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pachyonychia congenita type III of Schafer-Brunauer	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oto-palato-digital syndrome, type I	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Stern Lubinsky Durrie syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Filippi syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pachyonychia congenita type II of Jackson-Lawler	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Long thumb brachydactyly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Acrodysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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)	3
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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)	6
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Short rib polydactyly syndrome Saldino Noonan type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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)	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mandibuloacral dysostosis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Familial osteodysplasia Anderson type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial osteodysplasia Anderson type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
dysplasie spondylo-épimétaphysaire type Bieganski	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylometaphyseal dysplasia Golden type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Roifman syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pyknodysostosis (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Deafness with onychodystrophy syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostose, periphere	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Temtamy preaxial brachydactyly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachytelephalangic chondrodysplasia punctata (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive cutis laxa type 2B	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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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