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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
2616061000005117 dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia Is a Growth alteration true Inferred relationship Some
Dysplasia Is a Lesion (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. Associated morphology False Dysplasia Inferred relationship Some 1
Shwachman syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Monostotic fibrous dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Autosomal recessive hypophosphatemic vitamin D refractory rickets Associated morphology False Dysplasia Inferred relationship Some 1
Osteopoikilosis Associated morphology True Dysplasia Inferred relationship Some 1
Neurofibromatosis type 2 Associated morphology False Dysplasia Inferred relationship Some 2
Carcinoma in situ of uterine cervix Associated morphology False Dysplasia Inferred relationship Some 2
Carcinoma in situ of endocervix Associated morphology False Dysplasia Inferred relationship Some 1
Carcinoma in situ of exocervix Associated morphology False Dysplasia Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology False Dysplasia Inferred relationship Some 3
Rolland-Debuqois syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Retinal dysplasia Associated morphology False Dysplasia Inferred relationship Some
Multifocal retinal dysplasia Associated morphology False Dysplasia Inferred relationship Some
Developmental dysplasia of inner ear Associated morphology False Dysplasia Inferred relationship Some 1
Hyperphosphatasemia with bone disease Associated morphology False Dysplasia Inferred relationship Some 1
Paralytic calcification / ossification of muscle Associated morphology False Dysplasia Inferred relationship Some 1
Chondrodysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Lethal retarded ossification syndromes Associated morphology True Dysplasia Inferred relationship Some 1
Short rib polydactyly syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Chondrodysplasia punctata Associated morphology False Dysplasia Inferred relationship Some 1
Kondrodysplasi, specificeret på anden måde Associated morphology False Dysplasia Inferred relationship Some 1
Osteodysplasi Associated morphology False Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta - unclassifiable Associated morphology False Dysplasia Inferred relationship Some 1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Dysplasia Inferred relationship Some 1
Multiple exostosis syndromes Associated morphology False Dysplasia Inferred relationship Some 1
Osteokondrodysplasi Associated morphology False Dysplasia Inferred relationship Some 1
Multiple congenital exostosis Associated morphology False Dysplasia Inferred relationship Some 1
Spondylodysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Short rib dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Atelosteogenese/diastrofisk dysplasi Associated morphology False Dysplasia Inferred relationship Some 1
Kniest-Stickler dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Dysostosis multiplex Associated morphology True Dysplasia Inferred relationship Some 1
Knoglekrumningsdysplasi Associated morphology False Dysplasia Inferred relationship Some 1
Pseudokondroplasi Associated morphology False Dysplasia Inferred relationship Some 1
Segmental neurofibromatosis Associated morphology False Dysplasia Inferred relationship Some 2
Diffuse neurofibroma Associated morphology False Dysplasia Inferred relationship Some 2
Otomandibular dysostosis Associated morphology False Dysplasia Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Associated morphology True Dysplasia Inferred relationship Some 1
Zygo-auromandibulær dysostose Associated morphology False Dysplasia Inferred relationship Some 1
Temporo-aural dysostosis Associated morphology True Dysplasia Inferred relationship Some 1
Maxillary dysostosis (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
Congenital exostosis Associated morphology False Dysplasia Inferred relationship Some 1
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Associated morphology True Dysplasia Inferred relationship Some 1
Symfalangi-brakydaktyli-syndrom Associated morphology False Dysplasia Inferred relationship Some 1
Lenz-Majewski hyperostosis syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Associated morphology True Dysplasia Inferred relationship Some 1
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Some 1
[X]Carcinoma in situ of other parts of cervix Associated morphology False Dysplasia Inferred relationship Some 1
Fibroadenosis of breast NOS Associated morphology False Dysplasia Inferred relationship Some 1
Other benign mammary dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Other benign mammary dysplasia NOS Associated morphology False Dysplasia Inferred relationship Some 1
Benign mammary dysplasia NOS Associated morphology False Dysplasia Inferred relationship Some 1
[X]Other benign mammary dysplasias Associated morphology False Dysplasia Inferred relationship Some 1
[X]Severe cervical dysplasia, not elsewhere classified Associated morphology False Dysplasia Inferred relationship Some 1
Kondrodysplasi, uspecificeret Associated morphology False Dysplasia Inferred relationship Some 1
Dyskondroplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Andre letale ossifikationsforsinkelsessyndromer Associated morphology False Dysplasia Inferred relationship Some 1
Osteodysplasi, uspecificeret Associated morphology False Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Anden osteodysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
[X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False Dysplasia Inferred relationship Some 1
[X]Other specified osteochondrodysplasias Associated morphology False Dysplasia Inferred relationship Some 1
[X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Dysplasia Inferred relationship Some 1
[X]Other phakomatoses, not elsewhere classified Associated morphology False Dysplasia Inferred relationship Some 1
Trichorhinophalangeal syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Kondrodystrofi, ikke klassificeret andetsteds Associated morphology False Dysplasia Inferred relationship Some 1
Anden specificeret osteodysplasi Associated morphology False Dysplasia Inferred relationship Some 1
Osteodysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia epiphysealis hemimelica Associated morphology True Dysplasia Inferred relationship Some 2
Metachondromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Kondrodysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Multipel epifyseal dysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Biliary tract dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Mild biliary tract dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Moderate biliary tract dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Severe biliary tract dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia of colon Associated morphology False Dysplasia Inferred relationship Some 1
Mild dysplasia of colon Associated morphology False Dysplasia Inferred relationship Some 1
Moderate dysplasia of colon Associated morphology False Dysplasia Inferred relationship Some 1
Severe dysplasia of colon Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia of rectum Associated morphology False Dysplasia Inferred relationship Some 1
Mild dysplasia of rectum Associated morphology False Dysplasia Inferred relationship Some 1
Moderate dysplasia of rectum (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
Severe dysplasia of rectum Associated morphology False Dysplasia Inferred relationship Some 1
Oculodentodigital syndrome Associated morphology False Dysplasia Inferred relationship Some 1
cervixdysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Canine trochlear notch incongruity Associated morphology False Dysplasia Inferred relationship Some 1
Maxillary dysostosis (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
Patella dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Scypho-patellar dysplasia (disorder) Associated morphology False Dysplasia Inferred relationship Some 2
Sturge-Weber syndrome Associated morphology False Dysplasia Inferred relationship Some 3
Laryngoonykokutant syndrom Associated morphology False Dysplasia Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Associated morphology False Dysplasia Inferred relationship Some 2
Hypohidrosis-diabetes insipidus syndrome Associated morphology True Dysplasia Inferred relationship Some 2
Ectodermal dysplasia with nail defect Associated morphology False Dysplasia Inferred relationship Some 1
Trifalangeale tommelfingre med onykodystrofi Associated morphology False Dysplasia Inferred relationship Some 2
Hypohidrosis with neurolabyrinthitis (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Dysplasia Inferred relationship Some 2
Sturge-Weber syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology False Dysplasia Inferred relationship Some 2
Hallermann-Streiff syndrome Associated morphology False Dysplasia Inferred relationship Some 1

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