57917004: Seckel syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seckel syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Seckel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Seckel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Seckel syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Seckel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Seckel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Seckel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Seckel syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

796592012 Seckel syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

96285014 Seckel syndrome en Synonym Active Case sensitive SNOMED CT core

96286010 Bird-headed dwarf of Seckel en Synonym Active Initial character case insensitive SNOMED CT core

96287018 Nanocephalic dwarf en Synonym Active Case insensitive SNOMED CT core

96288011 Bird-headed dwarf en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Seckel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Seckel syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Seckel syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Seckel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Seckel syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Seckel syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Seckel syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Seckel syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Seckel syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Seckel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Seckel syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Seckel syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Seckel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Seckel syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Seckel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Seckel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Seckel syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Seckel syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Seckel syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Seckel syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Seckel syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Seckel syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Seckel syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Seckel syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Seckel syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Seckel syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Seckel syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Seckel syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia	false	Inferred relationship	Some
Seckel syndrome	Is a	Encephalopathy	false	Inferred relationship	Some
Seckel syndrome	Finding site	Structure of head	false	Inferred relationship	Some	1
Seckel syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Seckel syndrome	Is a	Primordial dwarfism	true	Inferred relationship	Some
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Seckel syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Seckel syndrome	Finding site	Structure of head	false	Inferred relationship	Some	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Seckel syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Seckel syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	4
Seckel syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Some

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
796592012	Seckel syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
96285014	Seckel syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
96286010	Bird-headed dwarf of Seckel	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
96287018	Nanocephalic dwarf	en	Synonym	Active	Case insensitive	SNOMED CT core
96288011	Bird-headed dwarf	en	Synonym	Active	Case insensitive	SNOMED CT core