75979009: Johanson-Blizzard syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

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

\Finding of head region\Finding of mouth region\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Finding of head region\Finding of mouth region\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\Johanson-Blizzard syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\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\Johanson-Blizzard syndrome
\Finding of head region\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\Johanson-Blizzard syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

\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\Johanson-Blizzard syndrome
\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\Johanson-Blizzard syndrome
\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\Johanson-Blizzard syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\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\Johanson-Blizzard syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\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\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\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\Johanson-Blizzard syndrome
\Disease\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\Johanson-Blizzard syndrome
\Disease\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\Johanson-Blizzard syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\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\Johanson-Blizzard syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Disorder of tooth development\Malformation of tooth\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Johanson-Blizzard syndrome

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

126200014 Johanson-Blizzard syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

816648011 Johanson-Blizzard syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Johanson-Blizzard syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Johanson-Blizzard syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	true	Inferred relationship	Existential restriction modifier
Johanson-Blizzard syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Johanson-Blizzard syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Johanson-Blizzard syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Johanson-Blizzard syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Johanson-Blizzard syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Johanson-Blizzard syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Johanson-Blizzard syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Johanson-Blizzard syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	1
Johanson-Blizzard syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Johanson-Blizzard syndrome	Finding site	Tooth structure	true	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Johanson-Blizzard syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aplasia cutis in Johanson-Blizzard syndrome	Is a	False	Johanson-Blizzard syndrome	Inferred relationship	Existential restriction modifier
Aplasia cutis in Johanson-Blizzard syndrome	Associated with	True	Johanson-Blizzard syndrome	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
126200014	Johanson-Blizzard syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
816648011	Johanson-Blizzard syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module