1237618009: Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Finding of cellular component of blood\White blood cell finding\Neutrophil abnormality\Pelger-Huët cell\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Evaluation finding\Genetic finding\Genetic anomaly of leukocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Evaluation finding\Hematopoietic system finding\White blood cell finding\Neutrophil abnormality\Pelger-Huët cell\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\Genetic anomaly of leukocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Finding of blood, lymphatics and immune system\Immune system finding\White blood cell finding\Neutrophil abnormality\Pelger-Huët cell\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Central nervous system finding\Disorder of the central nervous system\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

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

\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly 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\Short stature, optic nerve atrophy, Pelger-Huët anomaly 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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of immune function\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of immune function\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of immune function\White blood cell disorder\Genetic anomaly of leukocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of cellular component of blood\White blood cell disorder\Genetic anomaly of leukocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of immune structure\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly 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\Short stature, optic nerve atrophy, Pelger-Huët anomaly 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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Congenital disease\Congenital atrophy of optic nerve\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Congenital disease\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Congenital disease\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Congenital disease\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\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\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5100058012 SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5100059016 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5100060014 Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Disorder of immune structure	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Pelger-Huët anomaly	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Interprets	White blood cell test	true	Inferred relationship	Existential restriction modifier	6
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Interprets	Genetic test	true	Inferred relationship	Existential restriction modifier	7
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Interprets	Body height measure	true	Inferred relationship	Existential restriction modifier	5
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	1
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Finding site	Leukocyte	true	Inferred relationship	Existential restriction modifier	4
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5100058012	SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5100059016	Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5100060014	Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module