62501005: Chondroectodermal dysplasia (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Ectodermal dysplasia with hair-tooth-nail defects (disorder)\Chondroectodermal dysplasia
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Chondroectodermal dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondroectodermal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Chondroectodermal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondroectodermal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Chondroectodermal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondroectodermal dysplasia

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

103881016 Chondroectodermal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

103882011 Ellis-van Creveld syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

801681018 Chondroectodermal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232341017 EVC - Ellis-van Creveld syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondroectodermal dysplasia	Is a	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Chondroectodermal dysplasia	Is a	Ectodermal dysplasia with hair-tooth-nail defects (disorder)	true	Inferred relationship	Some
Chondroectodermal dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Chondroectodermal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Chondroectodermal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Chondroectodermal dysplasia	Finding site	Skin structure	true	Inferred relationship	Some	2
Chondroectodermal dysplasia	Is a	Disorder of bone development (disorder)	false	Inferred relationship	Some
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Some	3
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	4
Chondroectodermal dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Chondroectodermal dysplasia	Is a	Skin lesion	true	Inferred relationship	Some
Chondroectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Chondroectodermal dysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chondroectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Some	1
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	3
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Chondroectodermal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Chondroectodermal dysplasia	Finding site	Tooth structure	true	Inferred relationship	Some	4
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	6
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Chondroectodermal dysplasia	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	6
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	5
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Chondroectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	6
Chondroectodermal dysplasia	Finding site	Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate.	true	Inferred relationship	Some	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	Is a	True	Chondroectodermal dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
103881016	Chondroectodermal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103882011	Ellis-van Creveld syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
801681018	Chondroectodermal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232341017	EVC - Ellis-van Creveld syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core