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17144009: Fibrochondrogenesis (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
28994014 Fibrochondrogenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400621000241114 fibrochondrogenèse (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
744305018 Fibrochondrogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
941481000172117 fibrochondrogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3784134011 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. 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
Fibrochondrogenesis morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Fibrochondrogenesis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Fibrochondrogenesis survenue (attribut) congénital true Inferred relationship Some 1
Fibrochondrogenesis est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) Chondrodysplasia true Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) Metatropic dysplasia (disorder) false Inferred relationship Some
Fibrochondrogenesis morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Fibrochondrogenesis morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Fibrochondrogenesis localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Fibrochondrogenesis morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Fibrochondrogenesis survenue (attribut) congénital false Inferred relationship Some 2
Fibrochondrogenesis localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2
Fibrochondrogenesis morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Fibrochondrogenesis localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Fibrochondrogenesis localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 1
Fibrochondrogenesis survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Short rib-polydactyly syndrome, non-Majewski type est un(e) (attribut) False Fibrochondrogenesis Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type est un(e) (attribut) False Fibrochondrogenesis Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type est un(e) (attribut) False Fibrochondrogenesis Inferred relationship Some
Dyggve-Melchior-Clausen syndrome est un(e) (attribut) False Fibrochondrogenesis Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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