17144009: Fibrochondrogenesis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Fibrochondrogenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\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

744305018 Fibrochondrogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

941481000172117 fibrochondrogenèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

992681000172119 fibrochondrogenese nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibrochondrogenesis	Is a	Metatropic dysplasia	false	Inferred relationship	Some
Fibrochondrogenesis	Finding site	Bone structure	true	Inferred relationship	Some	1
Fibrochondrogenesis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some
Fibrochondrogenesis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Fibrochondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some	2
Fibrochondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	2
Fibrochondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Fibrochondrogenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Fibrochondrogenesis	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Chondrodysplasia (disorder)	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short rib-polydactyly syndrome, non-Majewski type	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Fibrochondrogenesis	Inferred relationship	Some

This concept is not in any reference sets

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
744305018	Fibrochondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
941481000172117	fibrochondrogenèse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
992681000172119	fibrochondrogenese	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)