773307006: Zechi Ceide syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Zechi Ceide syndrome

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Zechi Ceide syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Zechi Ceide syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Zechi Ceide syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome

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

\Finding of brain\Encephalopathy\Congenital anomaly of brain\...

\Congenital anomaly of cerebrum\Zechi Ceide syndrome

\Occipital encephalocele\Zechi Ceide syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Finding of head region\Occipital encephalocele\Zechi Ceide syndrome

\Cranial suture finding\Occipital encephalocele\Zechi Ceide syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Zechi Ceide syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Zechi Ceide syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Zechi Ceide syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Occipital encephalocele\Zechi Ceide syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Occipital encephalocele\Zechi Ceide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Zechi Ceide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Occipital encephalocele\Zechi Ceide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Zechi Ceide syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Zechi Ceide syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Zechi Ceide syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Zechi Ceide syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Zechi Ceide syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Zechi Ceide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Zechi Ceide syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Occipital encephalocele\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Zechi Ceide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Zechi Ceide syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3723066017 Zechi Ceide syndrome en Synonym Active Case sensitive SNOMED CT core

3723067014 Occipital atretic cephalocele, unusual facies, large feet syndrome en Synonym Active Case insensitive SNOMED CT core

3723068016 Zechi Ceide syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3723069012 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Zechi Ceide syndrome	Finding site	Foot structure	true	Inferred relationship	Some	1
Zechi Ceide syndrome	Is a	Occipital encephalocele	true	Inferred relationship	Some
Zechi Ceide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Zechi Ceide syndrome	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	2
Zechi Ceide syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Zechi Ceide syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Zechi Ceide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Zechi Ceide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Zechi Ceide syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Zechi Ceide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Zechi Ceide syndrome	Is a	Congenital anomaly of foot	true	Inferred relationship	Some
Zechi Ceide syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Zechi Ceide syndrome	Finding site	Occipital lobe structure	true	Inferred relationship	Some	2
Zechi Ceide syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Zechi Ceide syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Zechi Ceide syndrome	Associated morphology	Congenital failure of fusion with herniated tissue	false	Inferred relationship	Some	5
Zechi Ceide syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Zechi Ceide syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Zechi Ceide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Zechi Ceide syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Zechi Ceide syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Zechi Ceide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Zechi Ceide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Zechi Ceide syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	5
Zechi Ceide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Zechi Ceide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Zechi Ceide syndrome	Associated morphology	Hernia	false	Inferred relationship	Some	4
Zechi Ceide syndrome	Finding site	Occipital lobe structure	false	Inferred relationship	Some	4
Zechi Ceide syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	2
Zechi Ceide syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Zechi Ceide syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	4
Zechi Ceide syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some
Zechi Ceide syndrome	Associated morphology	Protrusion	true	Inferred relationship	Some	2
Zechi Ceide syndrome	Finding site	Brain structure	true	Inferred relationship	Some	5
Zechi Ceide syndrome	Associated morphology	Hernia	true	Inferred relationship	Some	5
Zechi Ceide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Zechi Ceide syndrome	Finding site	Structure of occipitomastoid suture of skull	true	Inferred relationship	Some	4
Zechi Ceide syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Zechi Ceide syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Zechi Ceide syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Zechi Ceide syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Zechi Ceide syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723066017	Zechi Ceide syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723067014	Occipital atretic cephalocele, unusual facies, large feet syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723068016	Zechi Ceide syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3723069012	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core