62501005: Chondroectodermal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with tooth-nail defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Ectodermal dysplasia with hair-tooth-nail defects\Chondroectodermal dysplasia

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

103881016 Chondroectodermal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

103882011 Ellis-van Creveld syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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

1232341017 EVC - Ellis-van Creveld syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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	Existential restriction modifier
Chondroectodermal dysplasia	Is a	Ectodermal dysplasia with hair-tooth-nail defects	true	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Is a	Disorder of bone development	false	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Is a	Skin lesion	true	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	1
Chondroectodermal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Chondroectodermal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Chondroectodermal dysplasia	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	6
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Chondroectodermal dysplasia	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	6
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Chondroectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Chondroectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	6
Chondroectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	6
Chondroectodermal dysplasia	Finding site	Nail unit structure	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chondroectodermal dysplasia with night blindness syndrome	Is a	True	Chondroectodermal dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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