FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

783004003: Thin ribs, tubular bones, dysmorphism syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3757104016 Thin ribs, tubular bones, dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757105015 Thin ribs, tubular bones, dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757106019 Sharma Kapoor Ramji syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757103010 An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thin ribs, tubular bones, dysmorphism syndrome Finding site Face structure true Inferred relationship Some 2
Thin ribs, tubular bones, dysmorphism syndrome Is a Short rib dysplasia false Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Finding site Bone structure of rib true Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Thin ribs, tubular bones, dysmorphism syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Thin ribs, tubular bones, dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 2
Thin ribs, tubular bones, dysmorphism syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Is a Skeletal dysplasia true Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a Congenital anomaly of rib true Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start