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279082008: Acromesomelic dysplasia group (disorder)

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
416204018 Acromesomelic dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
416205017 Acromesomelic dysplasia group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
416206016 Acromesomelic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
416207013 Acromesomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
672321019 Acromesomelic dysplasia group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5972851000241112 groupe de dysplasie acromésomélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acromesomelic dysplasia syndrome Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Acromesomelic dysplasia syndrome Finding site Bone structure true Inferred relationship Some 1
Acromesomelic dysplasia syndrome Occurrence Congenital false Inferred relationship Some
Acromesomelic dysplasia syndrome Finding site Skeletal system structure false Inferred relationship Some 1
Acromesomelic dysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Acromesomelic dysplasia syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some
Acromesomelic dysplasia syndrome Is a Disorder of limb (disorder) false Inferred relationship Some
Acromesomelic dysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acromesomelic dysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acromesomelic dysplasia syndrome Finding site Bone structure false Inferred relationship Some 1
Acromesomelic dysplasia syndrome Occurrence Congenital false Inferred relationship Some 2
Acromesomelic dysplasia syndrome Finding site Bone structure false Inferred relationship Some 2
Acromesomelic dysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Acromesomelic dysplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Acromesomelic dysplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acromesomelic dysplasia syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acromicric dysplasia Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Saldino-Mainzer dysplasia Is a False Acromesomelic dysplasia syndrome Inferred relationship Some
Cranioectodermal dysplasia Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Is a False Acromesomelic dysplasia syndrome Inferred relationship Some
Trichorhinophalangeal syndrome Is a False Acromesomelic dysplasia syndrome Inferred relationship Some
Geleophysic dysplasia Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Acrodysostosis Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Grebe syndrome Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Brachydactyly syndrome type C (disorder) Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
Brachydactyly syndrome type E Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
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. Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Is a True Acromesomelic dysplasia syndrome Inferred relationship Some
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. Is a True Acromesomelic dysplasia syndrome Inferred relationship Some

This concept is not in any reference sets

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