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25723000: Dysplasia (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
43110010 Dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756074016 Dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
43110010 Dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
43110010 Dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
43113012 Acquired dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756074016 Dysplasia (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756074016 Dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1080891000241117 dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1080891000241117 dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia Is a Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia Is a Lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Dentate dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Papillon-Lefèvre syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal osteosclerotic dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Blomstrand dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Raine dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal syndrome with hair-tooth-sweating defects (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal syndrome with hair-sweating defects Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Jarcho-Levin syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Seckel syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil sequence (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Desmosterolosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive dyskeratosis congenita Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pulmonary lymphatic dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dyskeratosis congenita (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Marshall-Smith syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dyskeratosis congenita Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Revesz syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 11
Wildervanck syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Focal facial dermal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal facial dermal dysplasia type I Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal facial dermal dysplasia type II Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal facial dermal dysplasia type III (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal facial dermal dysplasia type IV Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Keratitis ichthyosis and deafness syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Barber-Say syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Segmental odontomaxillary dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of aortic valve (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of truncal valve Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Cerebro-costo-mandibular syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Proteus syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Port-wine stain in proteus syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Type IV short rib polydactyly syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Type III short rib polydactyly syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Robinow syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Bilateral Madelung deformity Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Chondrodysplasia punctata due to maternal autoimmune disease (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign mammary dysplasia of left breast (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign mammary dysplasia of right breast (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of bone caused by drug Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of ear vestibule Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital retinal dysplasia caused by teratogenic substance (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type II Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type Ib Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type I Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type Ia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mandibuloacral dysplasia with type A lipodystrophy Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Genochondromatosis type 1 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type IIa Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Focal cortical dysplasia type IIb Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta type 5 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Onycho-tricho-dysplasia neutropenia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic chondrodysplasia punctata type 1 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Sabinas brittle hair syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic chondrodysplasia punctata type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic chondrodysplasia punctata type 3 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of left hip (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of right hip (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral dysplastic hip (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome type 1 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome type 4 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia of upper limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cystic dysplasia of kidney Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
SIX2-related frontonasal dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Incontinentia pigmenti syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Kosaki overgrowth syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
Mucopolysaccharidosis-like plus disease Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Sugarman brachydactyly (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Tubulinopathy-associated dysgyria (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Tubulinopathy-associated dysgyria (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2

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