1237618009: syndroom van kleine gestalte, opticusatrofie en Pelger-Huët-anomalie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Laboratory test finding (finding)\Genetic finding\Genetic anomaly of leucocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Laboratory test finding (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 (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \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 (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Genetic anomaly of leucocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \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 (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Procedure related finding\Evaluation finding\...
• \Finding of cellular component of blood (finding)\White blood cell finding\Neutrophil abnormality\Pelger-Huët cell\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Genetic finding\Genetic anomaly of leucocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Hematopoietic system finding\White blood cell finding\Neutrophil abnormality\Pelger-Huët cell\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \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 (disorder)
• \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 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Genetic anomaly of leucocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Non-malignant white cell disorder\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Genetic anomaly of leucocyte\Pelger-Huët anomaly\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \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 (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \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 (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\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)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \Disease\Developmental disorder\Developmental hereditary disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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)
• \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 (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5100058012	SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100059016	Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100060014	Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13986821000146115	syndroom van kleine gestalte, opticusatrofie en anomalie van Pelger-Huët	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13986831000146118	syndroom van kleine gestalte, opticusatrofie en Pelger-Huët-anomalie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13986841000146114	syndroom van kleine gestalte, opticusatrofie en Pelger-Huët-anomalie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13986851000146112	syndroom van kleine gestalte, atrofie van nervus opticus en PHA	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13986861000146110	SOPH-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13986871000146116	syndroom van kleine gestalte, opticusatrofie en Pelger-Huët-afwijking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5100061013	A rare genetic developmental defect during embryogenesis malformation syndrome. The syndrome is characterised by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leucocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of colour vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100062018	A rare genetic developmental defect during embryogenesis malformation syndrome. The syndrome is characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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