17144009: Fibrochondrogenesis (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Fibrochondrogenesis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis
\Disease\trouble du développement\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Fibrochondrogenesis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Fibrochondrogenesis

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

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)

Back to Start

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