720639008: Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\CHIME syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\CHIME syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\CHIME syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\CHIME syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\CHIME syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\CHIME syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\CHIME syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\CHIME syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\CHIME syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\CHIME syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\CHIME syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\CHIME syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\CHIME syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\CHIME syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\CHIME syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\CHIME syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CHIME syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CHIME syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\CHIME syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\CHIME syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\CHIME syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\CHIME syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\CHIME syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\CHIME syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\CHIME syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\CHIME 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\CHIME syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\CHIME syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\CHIME syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\CHIME syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\CHIME syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\CHIME syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\CHIME syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\CHIME syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\CHIME syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\CHIME syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\CHIME syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\CHIME syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\CHIME syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321628015 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321629011 Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3321630018 CHIME syndrome en Synonym Active Case sensitive SNOMED CT core

3321631019 CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome en Synonym Active Case sensitive SNOMED CT core

3321632014 Neuroectodermal dysplasia CHIME type en Synonym Active Initial character case insensitive SNOMED CT core

3321633016 Zunich Kaye syndrome en Synonym Active Case sensitive SNOMED CT core

3321634010 A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
CHIME syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
CHIME syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
CHIME syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
CHIME syndrome	Finding site	Skin structure	true	Inferred relationship	Some	5
CHIME syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	5
CHIME syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
CHIME syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
CHIME syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
CHIME syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
CHIME syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
CHIME syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
CHIME syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
CHIME syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
CHIME syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
CHIME syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
CHIME syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
CHIME syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	2
CHIME syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
CHIME syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	6
CHIME syndrome	Interprets	Hearing	true	Inferred relationship	Some	7
CHIME syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
CHIME syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
CHIME syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	8
CHIME syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
CHIME syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	9
CHIME syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	9
CHIME syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
CHIME syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	10
CHIME syndrome	Finding site	Eye structure	false	Inferred relationship	Some	10
CHIME syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
CHIME syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
CHIME syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
CHIME syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
CHIME syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
CHIME syndrome	Is a	Coloboma of eye	true	Inferred relationship	Some
CHIME syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
CHIME syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
CHIME syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
CHIME syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
CHIME syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
CHIME syndrome	Finding site	Ear structure	false	Inferred relationship	Some	6
CHIME syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
CHIME syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
CHIME syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
CHIME syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
CHIME syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	9
CHIME syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
CHIME syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
CHIME syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
CHIME syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	7
CHIME syndrome	Finding site	Skin structure	false	Inferred relationship	Some	9
CHIME syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	8
CHIME syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	8
CHIME syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
CHIME syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
CHIME syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
CHIME syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321628015	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321629011	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321630018	CHIME syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321631019	CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321632014	Neuroectodermal dysplasia CHIME type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321633016	Zunich Kaye syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321634010	A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core